Tandem Mass Spectrometry for the Direct Assay of Enzymes in Dried Blood Spots: Application to Newborn Screening for Mucopolysaccharidosis II (Hunter Disease)

BACKGROUND: A treatment for mucopolysaccharidosis II (Hunter syndrome) has recently become available. Therefore, we developed a high-throughput assay method appropriate for newborn screening for the relevant enzyme, iduronate 2-sulfatase. METHODS: We synthesized a new iduronate 2-sulfatase substrate...

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Hlavní autoři: Wang, Ding, Wood, Tim, Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2006
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2497000/
https://ncbi.nlm.nih.gov/pubmed/17082248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2006.077263
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